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All Genetics
Citations 301-310 of 679 total displayed.
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Past content
(since Jan 2001):
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- ARTICLES
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
- S. Lucioli, B. Giusti, E. Mercuri, O. Camacho Vanegas, L. Lucarini, V. Pietroni, A. Urtizberea, R. Ben Yaou, M. de Visser, A. J. van der Kooi, C. Bönnemann, S. T. Iannaccone, L. Merlini, K. Bushby, F. Muntoni, E. Bertini, M. -L. Chu, and G. Pepe
Neurology 2005; 64: 1931-1937.
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- BRIEF COMMUNICATIONS
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
- F. Asmus, V. Horber, J. Pohlenz, D. Schwabe, A. Zimprich, M. Munz, M. Schöning, and T. Gasser
Neurology 2005; 64: 1952-1954.
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- BRIEF COMMUNICATIONS
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
- Y. Li, H. Tomiyama, K. Sato, Y. Hatano, H. Yoshino, M. Atsumi, M. Kitaguchi, S. Sasaki, S. Kawaguchi, H. Miyajima, T. Toda, Y. Mizuno, and N. Hattori
Neurology 2005; 64: 1955-1957.
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- BRIEF COMMUNICATIONS
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
- A. Albanese, E. M. Valente, L. M. Romito, E. Bellacchio, A. E. Elia, and B. Dallapiccola
Neurology 2005; 64: 1958-1960.
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- ARTICLES
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians
- K. Roddier, T. Thomas, G. Marleau, A. M. Gagnon, M. J. Dicaire, A. St-Denis, I. Gosselin, A. M. Sarrazin, A. Larbrisseau, M. Lambert, M. Vanasse, D. Gaudet, G. A. Rouleau, and B. Brais
Neurology 2005; 64: 1762-1767.
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- BRIEF COMMUNICATIONS
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
- M. T. Pellecchia, E. M. Valente, L. Cif, S. Salvi, A. Albanese, V. Scarano, U. Bonuccelli, A. R. Bentivoglio, A. D’Amico, C. Marelli, A. Di Giorgio, P. Coubes, P. Barone, and B. Dallapiccola
Neurology 2005; 64: 1810-1812.
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- EDITORIALS
Continued need for caution in the diagnosis of Duchenne muscular dystrophy
- Robert C. Griggs and Kate Bushby
Neurology 2005; 64: 1498-1499.
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- VIEWS & REVIEWS
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2
- H. H. Klünemann, B. H. Ridha, L. Magy, J. R. Wherrett, D. M. Hemelsoet, R. W. Keen, J. L. De Bleecker, M. N. Rossor, J. Marienhagen, H. E. Klein, L. Peltonen, and J. Paloneva
Neurology 2005; 64: 1502-1507.
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- BRIEF COMMUNICATIONS
Patterns of inheritance in familial ALS
- Marcus Bradley, Lloyd Bradley, Jackie de Belleroche, and Richard W. Orrell
Neurology 2005; 64: 1628-1631.
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- BRIEF COMMUNICATIONS
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
- Marianne Schwartz, Jens Michael Hertz, Marie Louise Sveen, and John Vissing
Neurology 2005; 64: 1635-1637.
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